Busch Lab

ZMP

SACS (2 of 2)

Ensembl ID:
ENSDARG00000062627
Description:
spastic ataxia of Charlevoix-Saguenay (sacsin) [Source:HGNC Symbol;Acc:10519]
Human Orthologue:
SACS
Human Description:
spastic ataxia of Charlevoix-Saguenay (sacsin) [Source:HGNC Symbol;Acc:10519]
Mouse Orthologue:
Sacs
Mouse Description:
sacsin Gene [Source:MGI Symbol;Acc:MGI:1354724]

Alleles

There are 11 alleles of this gene:

Allele Name Consequence Status Availability
sa32032 Nonsense Available for shipment Available now
sa14729 Nonsense Available for shipment Available now
sa12071 Nonsense Available for shipment Available now
sa18161 Nonsense Available for shipment Available now
sa10203 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa32032
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090779 Nonsense 1412 4578 9 9
Genomic Location (Zv9):
Chromosome 15 (position 21883491)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 9404419
GRCz11 15 9380490
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATCCATGAATGCACTTACTGTGACATCAAAGTAGAAGACCTGAATGACT[T/A]ACTAGATGATGCTTCCGAGCCCATCATCCTTGTCCATGATGACATTCCAA
Long Flanking Sequence:
CTGGTATCAGTTTCAGCAGATCTTGTGTGAGATATATGAATTTATGCAAGCTCACTTGGAAGATGCAAGGGAAGCCTTGAAGTCTCTGTCCTTTGATTGGGTTTGGACAGGGAAAACATTTGCTTCCCCTGGATGCACAGTTTTAAAGCCCATACCAGATTTGGACCTGCAACCTTACTTGTACTCGTTACCAAAGACTATTGCAAAATTCAACAAGCTTTTTAAATTCTGTGGCTCCATTGAAGAAGTTGTTCCAAGCCATGTCTTTGAAGTTGTCAAAACGATAAGACAAAGGTGTGAAGAGGAGATGACAAAACAAGAGAGTAAACGCAATGTCCTGCTCCTAATTAATATTTTACGGTGGCTATACAGCAGTCAAATACCAGTCGATGCTGACATGCATGTCCCCATTCTTTACCACAAAGATCCAAGCAAATTGGTTATGAAACCTATCCATGAATGCACTTACTGTGACATCAAAGTAGAAGACCTGAATGACT[T/A]ACTAGATGATGCTTCCGAGCCCATCATCCTTGTCCATGATGACATTCCAATGAAAACTGCTGAATGGTTGAAAGTCCCATGTTTGAGCACAAGATTGATAAACCCAGAGAACCTAGGGTTTGAACAATCAGGTCAAAGAGAGCCTCTAACTGTGAGAATAAAGAACATTCTAGAGGAATATCCATCAGTTGCAGATATCTTCAAAGAGCTCTTGCAGAATGCGGATGATGCCAATGCCACTGAGTGCAGTTTCTTGATTGACATGCGAAAGAATCTTGAAATTCGAGAGAATCTTCTTGACCCTGGCATGATTATTTGCCATGGTCCTGCTTTGTGGTCATTCAACAATTCTGTTTTCTCTGATACAGACTTCCTTAATATAACCAGGTTGGGTGGATCAATGAAAAGATGTGAAGCTGACAAGGTGGGAAAATTTGGCCTCGGGTTCAACTCTGTGTATCATGTGACTGACATACCTATTATTATGAGCAGAGAATTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14729
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090779 Nonsense 1897 4578 9 9
Genomic Location (Zv9):
Chromosome 15 (position 21884946)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 9402964
GRCz11 15 9379035
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AATCAAAACTGGCTTACCTGTCCACATAAATGGTTGCYTCGCTGTCACAT[C/A]AAATCGCAAAGAAATCTGGAAGACAGACACCAAAGGACAATGGAATTCCA
Long Flanking Sequence:
TATTCTTAAATCTGCTGCCAAAGTCATGAAAAAAGTTGCAGCCACCAGCAAAGTGCCAACTGAGGTACCGAAGTCTGGTTGCATCATCAGGATCATAGTGGAGGAGTACCATAATGTCTTCAGACGCATAGTTGATCTTCAGTCCCCACTTTTCAGAGGTTCTGATGAAGATCCATCATCTTACTTTGAGATGGCAGCTAAAGGTACACAAACTAAGAGACTTACAGATGACATGCCACAAAAGGGAGTTGAAAATACAAACTGGCTAATCTGCTCATGCATGGATGTGACAGAAGCTCTGAAATTCTCCTTAAATGATAGTGGAAAACGCCTTGGTCTGGTACCATGTGGAGGCATTGCTGTGCTGCTTACTGAAGAAGATAATAGAAAATGGACTGTTAAGACAAGTGCGACACCAATTGGGGAGGTTTTCTGCTACCTACCCCTTCGAATCAAAACTGGCTTACCTGTCCACATAAATGGTTGCTTCGCTGTCACAT[C/A]AAATCGCAAAGAAATCTGGAAGACAGACACCAAAGGACAATGGAATTCCATTTTCATGAGGCATGTGATTGTCCAAGCATACTTGGCTGCACTCAACATGCTGAGATCAATGGCAGAAAGTGGGGAGTTATTGGACTACAGCTATTATGCTGCCTGGCCTGACCCTGGAGTTGTCCATGATGATTTCAATCTGATTTGTCAAGGTGTTTATCAAGAAATAGCCAAAGGTGCTGATGATGATCGTGCAAAAGTCTTTTCAGATGGGAAAACCTGGGTGTCAATCAAGAATGTCCGATTTCTGGATGACTCCTTGCTCTGCAGACCAGACATTGGGTCTGCTGCATTTAAGATATTCTTGAAATATCTTAGAAAATGTGGATCCCAAGATCTCTGTGCTGTTGAGCTGCCAGAATGGGTTAAGGAAGGTTTTGATGATGCTGGCTGTAAAGGAAAATTAATGGAGAACACCCTGACTGAGAAGCAGTTTTTCTCAGATGTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12071
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
T > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090779 Nonsense 2081 4578 9 9
Genomic Location (Zv9):
Chromosome 15 (position 21885499)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 9402411
GRCz11 15 9378482
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTCCCCCATAWCCAAGACATAGATAAGGACCTACGGGACCCTCTGATGTA[T/G]TATGTACTCAATGAAAAACTTGAGGATTTTGCATCYATACTGAAGGAAAC
Long Flanking Sequence:
TTCATGAGGCATGTGATTGTCCAAGCATACTTGGCTGCACTCAACATGCTGAGATCAATGGCAGAAAGTGGGGAGTTATTGGACTACAGCTATTATGCTGCCTGGCCTGACCCTGGAGTTGTCCATGATGATTTCAATCTGATTTGTCAAGGTGTTTATCAAGAAATAGCCAAAGGTGCTGATGATGATCGTGCAAAAGTCTTTTCAGATGGGAAAACCTGGGTGTCAATCAAGAATGTCCGATTTCTGGATGACTCCTTGCTCTGCAGACCAGACATTGGGTCTGCTGCATTTAAGATATTCTTGAAATATCTTAGAAAATGTGGATCCCAAGATCTCTGTGCTGTTGAGCTGCCAGAATGGGTTAAGGAAGGTTTTGATGATGCTGGCTGTAAAGGAAAATTAATGGAGAACACCCTGACTGAGAAGCAGTTTTTCTCAGATGTTTTCTTCCCCCATATCCAAGACATAGATAAGGACCTACGGGACCCTCTGATGTA[T/G]TATGTACTCAATGAAAAACTTGAGGATTTTGCATCCATACTGAAGGAAACCCCATGCATTCCATCTTCAGGACCATCAAAGATGCTTGTTTTGCCATCTCGACTCATCCACCCAGAGGGCAGAGTGGCCAAACTTTACAACAGTGAAGACGGAAGGTTTCCTGAAGGAAGTCTAAGAGACTATGTCAATCCAGTATGCTTGGTGAAGTTATTGCAGCTGGGAATGGTCAAGGATGACTTATCTTGGGAAGACTTGATTGAAAGGGCTGAGTCTGTACTGGCTCTGAATGAAAATGACCACACAATTGCGTGCCACAGGAGCAGCATAATCCTCAGTCTTATTGACGAAAAGCTAAAAATGAGAGATCCAGCTGCAAATCAGTATCTTGATATATTTCAAAATATCAAGTTCCTACCATTTTTGACAAAGCCAGCTGGATTTTCACTTCCGTGGCATGGCAACAATTTCCCCCAGTTGACCATGTTCTCTGCAAAGGAGCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18161
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090779 Nonsense 2403 4578 9 9
Genomic Location (Zv9):
Chromosome 15 (position 21886464)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 9401446
GRCz11 15 9377517
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTTTTTGAAAATGTGGGAGTTCACGCAAGCTTCACTGTTGAAACGTTCT[C/A]AGGTGTTTTACAGCYGATAAAGAATGAATGTGGGAGAAAACCTYTMACTG
Long Flanking Sequence:
TTTCCCCCAGTTGACCATGTTCTCTGCAAAGGAGCTTTTTACAACAGAACACCAGGACACTGTGTGTTTGATGAACCCTATTCTGAATGAAAATTCACCCTCCTTTAAAGGATGTGGTCCCATCTCACTGGCTGTGAAGGACTTTCTTGGACTCATAAGAAAGCCGACGGTCTCATTAGTCATCAGCCAGCTAAAAGAGCTCTCAAAGTCCTTTGACGGTGTAACACTGTACCAAGAGAACATAACCAATGCTTGTTACAAATATCTTCATGAGGAGTTGCTTCAGTCCAATGCTGCAAAAGAGGAAATCATGGAAGAGCTAAAAACATTCTCCTCTATTTTAGTTGAGAACACATATGTGGAGCCATTAAAAGTTGCATTTAACTTAAACTTTGATGCTGCACCATACCTTTACCAACTTCCAAACAAGTACAGAAATAGTTGTCGAGAGCTTTTTGAAAATGTGGGAGTTCACGCAAGCTTCACTGTTGAAACGTTCT[C/A]AGGTGTTTTACAGCTGATAAAGAATGAATGTGGGAGAAAACCTCTAACTGAAGAAAACTTTCAACTGTCTCGTAGAATAATTAGTGAGGGAATATGGAGCTTGATCAGAGACAAAAGTCAAGAGTTCTGTCTAAGCAACTACGGGGAGATACTTCTTCCTGACAGCAATTTCACATTACAACCATCAAAATCGCTTTGCTACAATGACTGTCCTTGGATTAAAGTCAGGGACACGACTGTTAAATACTGCCATGGTGATATTCCAAGAGAAGTAGCAGTAAAACTGGGGGCAATTCCGAAACGTCACAAAGCCTTAGAAAGATATGCCTCCAACATTTGCTTCACTACCCTTGGCAGTGAGTTTGGGCAGAAGGAGAAACTCACCAGCAGAATAAAAAGTATCCTCAATGCTTATCCATCTGAAAAAGAGATGTTGAAAGAGCTCCTGCAGAATGCAGATGATGCAAAAGCCACAGAAATATACTTTGTCTTTGATCCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10203
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090779 Nonsense 3377 4578 9 9
Genomic Location (Zv9):
Chromosome 15 (position 21889385)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 9398525
GRCz11 15 9374596
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTTCCAGCATACTTCGAGCWCTTGAGTACATGATCCAGATATCCGCTTTC[A/T]AAACAGCAAGTTTGACTGATAAAGATTTCGATGCTTTGCTGTTGTACTTC
Long Flanking Sequence:
CTTTTGACATAAACAGTTTTGGAGACCTTTTGGGATCTGTTCTTCCCCGGGAGTGCAAAGCAAGGAGTTCAGTGAAGTGGAAGGAGAACTTTCCCACTGAATCTTGGCTCAAGAGTTCATGGCATTTTATCAGTGAACAACTTGCAAACAAGGATGACCAAGCAGAAAACAAGCTGAAATTTGAGACCATTCTGGAGATCTTAAAAGATTGGGCCCTCCTTCCAGGAATCAAATTTTTGGTTTCAGGCAACAAATTGGTTGTGCCAGAGCATGACGTTTTGTTACCCCTGAGCCTGATCTTTGCAGCCATCTTCCCGAATGGACAAAATGACAAAGTCTTTCATACCTTGATGAAAGGAGGATGCTTTCAATTGGCTGTGAATAAAATATGTGCCAAAGAGAATCCCATGTTGCCTTTGCTGGCTCAGCATACAGCAAACATAGACAACCCTTCCAGCATACTTCGAGCTCTTGAGTACATGATCCAGATATCCGCTTTC[A/T]AAACAGCAAGTTTGACTGATAAAGATTTCGATGCTTTGCTGTTGTACTTCAACTGCAATTTGTCAAATCTAGCCCAGGATGATATTCAGTGTCTAAAACTGTTGCCATGTTACAAAGCTGTCAGTGGTCGGTACATATGCATTTCAAACTTTGGAGCATGCTATGTTCTAACAAAGAGCATTCCCTCAGCTGACATTGAAAAATGGGCACACAATACATCCTCAGCCTTCCTCGCTGACAATCCACAGCTGAAAGAACTCTACGGCTTCCTTGGGATCACACCAATCGATGATCTTGAGGTATACCTGAATCATGTCCTTCCAAAGTTTGACATTTTATCACATGATGCCAAAATCCAACATGTCATCTACCTGAAGGAGAGGTTATTGGCAATGGAGGAGCAAGTCAGCATCAAGGATAAACTCTTTGAAAAACTAGAAGGTCTGTCCTTCATTTATGACTCCACCAATAGACTGAAACCTGCCAAGGCCTTTTTTGAT
Associated Phenotype:
Not determined